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  2. Defects of intrinsic and innate immunity
  3. RNASEL
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Defects of intrinsic and innate immunity

Gene: RNASEL

Amber List (moderate evidence)
RNASEL (ribonuclease L)
EnsemblGeneIds (GRCh38): ENSG00000135828
EnsemblGeneIds (GRCh37): ENSG00000135828
OMIM: 180435, Gene2Phenotype
RNASEL is in 5 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single case reported with a homozygous variant reported and a supporting null mouse model.
Sources: Expert list
Created: 16 Dec 2024, 12:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related

Publications

Created: 16 Dec 2024, 12:37 a.m.

Panel version: 0.175

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related

Created: 2 Aug 2024, 1:48 a.m.
Last Modified: 2 Aug 2024, 1:48 a.m.
Panel version: Imported from Susceptibility to Viral Infections panel version 0.124

Peter McNaughton (Queensland Children's Hospital)

I don't know

Single patient presenting with similar presentation and functional findings to OAS1 and OAS2
Sources: Literature
Created: 29 Jul 2024, 5:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MIS-C

Publications

Created: 29 Jul 2024, 5:20 a.m.

Panel version: Imported from Susceptibility to Viral Infections panel version 0.117

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Amber
Phenotypes
  • Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related
OMIM
180435
Clinvar variants
Variants in RNASEL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rnasel has been classified as Amber List (Moderate Evidence).

16 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rnasel has been classified as Amber List (Moderate Evidence).

16 Dec 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RNASEL was added gene: RNASEL was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: RNASEL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEL were set to 36538032; 9351818 Phenotypes for gene: RNASEL were set to Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Review for gene: RNASEL was set to AMBER